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Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study

Eye volume 39, pages 345–353 (2025)Cite this article

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Abstract

Background

This study evaluated the clinical data on ophthalmic follow-up and treatment efficacy of hereditary vitreoretinal amyloidosis kindred due to transthyretin Gly83Arg variant over a 15-year follow-up period.

Methods

The clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analysed retrospectively. Sanger sequencing of the transthyretin gene, detailed medical history, pedigree charting, and systemic and ophthalmic examinations were carried out in all patients. The changes of best-corrected visual acuity (BCVA) after vitrectomy and the associations of amyloidosis recurrence and post-vitrectomy glaucoma were analysed.

Results

Fourteen patients with ATTRG83R were included, all experiencing vision loss due to vitreous opacities. The average age of onset was 40.93 ± 6.96 (29 to 52) years. The preoperative BCVA was 2.20 ± 0.69 logMAR, whereas the postoperative BCVA improved to 0.13 ± 0.35 logMAR (P < 0.05). The recurrence time was 58.83 ± 20.85 months after vitrectomy. At 90 months after vitrectomy, the cumulative recurrence rate was 94.7%. Eight eyes developed glaucoma after vitrectomy. None of the 5 eyes without vitrectomy developed glaucoma. Paired chi-square test showed a significant difference in the incidence rate of glaucoma between eyes with or without vitrectomy (P < 0.05). However, retinal amyloid angiopathy and cataract surgery were not associated with glaucoma (P > 0.05). Poor intraocular pressure control in 7 eyes resulted in severe visual impairment.

Conclusions

Hereditary ATTRG83R amyloidosis predominantly manifests as vitreous opacity, and vitrectomy can improve the visual acuity in affected patients. However, the recurrence of amyloidosis and related complications significantly impact long-term visual outcomes. Thus, delaying vitrectomy appropriately and maintaining regular follow-up visits is advisable.

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Fig. 1: The Pedigree of the hereditary ATTRG83R amyloidosis family.
Fig. 2: The clinical phenotype of patients with hereditary ATTRG83R amyloidosis.
Fig. 3: The therapeutic effect and recurrence of vitrectomy for vitreous amyloidosis.

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Data availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors would like to thank the patients in this study.

Funding

This study was supported by the National Natural Science Foundation of China under Grant numbers 31871263 and 81760174; Guizhou Science and Technology Cooperation Foundation under Grant ZK [2021] General 423, ZK [2021] General 428, ZK [2022] General 647, ZK [2023] general 529 and support [2023] general 265.

Author information

Author notes

  1. These authors contributed equally: Xingwang Chen, Cheng Xin.

Authors and Affiliations

  1. Department of Ophthalmology, Affiliated Hospital of Zunyi Medical University, Zunyi, China

    Xingwang Chen, Cheng Xin, Bing Xie, Hong Li, Huixuan Ren, Yue Gou & Shanjun Cai

  2. Guizhou Eye Hospital, Zunyi, China

    Xingwang Chen, Cheng Xin, Bing Xie, Hong Li, Huixuan Ren, Yue Gou & Shanjun Cai

  3. Guizhou Provincial Branch of National Eye Disease Clinical Research Center, Zunyi, China

    Xingwang Chen, Cheng Xin, Bing Xie, Hong Li, Huixuan Ren, Yue Gou & Shanjun Cai

  4. Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi Medical University, Zunyi, China

    Xingwang Chen, Bing Xie, Hong Li, Huixuan Ren & Shanjun Cai

  5. Department of Ophthalmology, The Second Affiliated Hospital of Zunyi Medical University, Zunyi, China

    Gang Su & Xiaomei Nie

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Contributions

XC, CX, HR, YG, and XN participated in the data collection and input. XC, CX and HL acquired and analysed data. XC and GS wrote the first draft of the manuscript. CX, BX and HL revised the manuscript. SC contributed to the experimental design and revised the manuscript.

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Correspondence to Shanjun Cai.

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The authors declare no competing interests.

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This study was approved by the Ethical Review Board of Zunyi Medical University with approval ID (2018)1-060.

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Chen, X., Xin, C., Su, G. et al. Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study. Eye 39, 345–353 (2025). https://doi.org/10.1038/s41433-024-03445-y

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